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具有“沉默”假胆碱酯酶基因的亲属(作者译)

[A kin with a "silent" pseudocholinesterase gene (author's transl)].

作者信息

Ploier R

出版信息

Z Kinderheilkd. 1975;119(1):31-6.

PMID:1124584
Abstract

After injection of short acting muscle relaxant suxamethonium on a 5-year-old boy during bronchography he was suffering from prolonged apnoe. Although using acetylthiocholin, butyrylthiocholin and benzoylcholin for tests we were not able to detect any activity of pseudocholinesterase in the patient's serum, Since there was no evidence of hepatic disease or hypoproteinemia, we supposed a genetically caused deficiency of serumcholinesterase. Examinations done on 18 members of this kin showed a complete absence of serumcholinesterase on 3 children (homozoygotes for "silent gene") and a significant decrease of pseudocholinesterase on 6 persons. It was not possible to detect the "silent gene" by counter immunelectrophoresis. The half value time after injection of purified human serumcholinesterase was between 8 to 9 days. Genetic aspects and clinical problems of the serumcholinesterase deficiency are discussed.

摘要

在对一名5岁男孩进行支气管造影期间注射短效肌肉松弛剂琥珀酰胆碱后,他出现了长时间的呼吸暂停。尽管使用乙酰硫代胆碱、丁酰硫代胆碱和苯甲酰胆碱进行检测,但我们未能在患者血清中检测到任何假性胆碱酯酶活性。由于没有肝病或低蛋白血症的证据,我们推测血清胆碱酯酶缺乏是由遗传引起的。对该家族18名成员进行的检查显示,3名儿童(“沉默基因”纯合子)血清胆碱酯酶完全缺失,6人假性胆碱酯酶显著降低。通过对流免疫电泳无法检测到“沉默基因”。注射纯化的人血清胆碱酯酶后的半衰期在8至9天之间。本文讨论了血清胆碱酯酶缺乏的遗传因素和临床问题。

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